Involvement in diseaseDefects in ITPKC are a cause of Kawasaki disease (KWD) [MIM:611775]; also known as mucocutaneous lymph node syndrome or infantile polyarteritis. Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. Coronary artery aneurysms develop in 15 to 25% of those left untreated, making Kawasaki disease the leading cause of acquired heart disease among children in developed countries.